title: Identification of a new translocation that disrupts the RUNX1 gene in a patient with de novo acute myeloid leukemia.
abstract: Translocation (8;21)(q22;q22)/RUNX1-RUNX1T1 is a molecular marker that is usually associated with a favorable outcome in both pediatric and adult patients with acute myeloid leukemia (AML). The present report describes the results of hematologic, cytogenetic, and fluorescence in situ hybridization analysis of a case of AML with maturation in a 23-year-old woman. Cytogenetic analysis revealed a balanced translocation involving chromosomal band 21q22, which disrupts the RUNX1 gene, and 10q22, with the following karyotype: 45,X,-X,t(10;21)(q24;q22)[cp16]/46,XX [4]. Interphase FISH showed, in 67% of the 300 interphase nuclei analyzed, three signals for RUNX1 and two RUNX1T1, but no signals corresponding to RUNX1-RUNX1T1 fusion gene. These results were corroborated by RT-PCR, which revealed negative results for the amplification of RUNX1-RUNX1T1 fusion gene. The patient was refractory to conventional and salvage chemotherapy regimens and early relapsed after unrelated donor bone marrow transplantation (BMT), dying of pneumonia, acute respiratory failure, and sepsis on day +80 after BMT, 1 year after diagnosis.
authors.affiliation: Department of Internal Medicine, Hematology Division, National Institute of Science and Technology on Cell-Based Therapy, Medical School of Ribeirão Preto, University of São Paulo, Av. Bandeirantes, 3900, Ribeirão Preto, São Paulo 14048-900, Brazil.
authors.forename: Antonio Roberto
authors.initials: AR
authors.lastname: Lucena-Araujo
authors.forename: Lorena Lobo
authors.initials: LL
authors.lastname: de Figueiredo-Pontes
authors.forename: Fábio Morato
authors.initials: FM
authors.lastname: de Oliveira
authors.forename: Maria
authors.initials: M
authors.lastname: de Lourdes Chauffaille
authors.forename: Roberto Passetto
authors.initials: RP
authors.lastname: Falcao
authors.forename: Eduardo Magalhães
authors.initials: EM
authors.lastname: Rego
mesh_terms: D000328:Adult; D016026:Bone Marrow Transplantation; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000628:therapy; D014178:Translocation, Genetic / Q000235:genetics*; D061349:Unrelated Donors; D055815:Young Adult
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human